ArticleAmerican journal of human genetics2010
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 9 syntheses or guidelines pooled it.
- Assessing the causal association of glycine with risk of cardio-metabolic diseases.Nature communications · 2019Pooled it
- Genome-wide association studies identify genetic loci for low von Willebrand factor levels.European journal of human genetics : EJHG · 2016Pooled it
- Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.The Journal of nutrition · 2013Pooled it
- Associations between a polymorphism in the pleiotropic GCKR and Age-related phenotypes: the HALCyon programme.PloS one · 2013Pooled it
- Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.American journal of human genetics · 2012Pooled it
- Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.European journal of human genetics : EJHG · 2012Pooled it
- ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.Human mutation · 2011Pooled it
- Pooled it
- Genetic predictors of fibrin D-dimer levels in healthy adults.Circulation · 2011Pooled it
- Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.American journal of hematology · 2015Trial
- Alcohol consumption and lifetime change in cognitive ability: a gene × environment interaction study.Age (Dordrecht, Netherlands) · 2014Trial
- Integrative proteogenomic analyses identify plasma proteins that impact the risk of ischemic stroke.Communications medicine · 2026Article
- Severe Factor XII Deficiency in a Patient with Spontaneous Coronary Artery Dissection.International journal of molecular sciences · 2026Article
- Historical review: more than two decades understanding the genetic architecture of hemostasis and thrombosis.Journal of thrombosis and haemostasis : JTH · 2026Review
- Activated partial thromboplastin time prolongation without hemorrhagic dienhesis: a study of a chinese family coexisting with hereditary KNG1 p.Arg240 mutation and --SEA/αα genotype thalassemia.Annals of hematology · 2026Article
- Multi-Polygenic prediction of Frailty and its Trajectories highlights Chronic Pain, Rheumatoid Arthritis, and Educational Attainment pathways.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide association and linkage analysis of histidine-rich glycoprotein identifies common variants associated with plasma histidine-rich glycoprotein concentrations.Research and practice in thrombosis and haemostasis · 2025Article
- Identification of multiple novel procoagulant plasma ligands for stabilin-2.Journal of thrombosis and haemostasis : JTH · 2025Article
- Lessons we learned from the Lothian Birth Cohorts of 1921 and 1936.Genomic psychiatry : advancing science from genes to society · 2025Article
- Validation of a polygenic risk score for frailty in the Lothian Birth Cohort 1936 and English longitudinal study of ageing.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Activated partial thromboplastin time (aPTT) is associated with risk of thrombosis and coagulation disorders. We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). These three SNPs explain approximately 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.